Submissions for variant NM_001267550.2(TTN):c.52317A>G (p.Lys17439=)

gnomAD frequency: 0.00009  dbSNP: rs370450339

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV000246418	SCV000319067	likely benign	Cardiovascular phenotype	2013-11-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV001083135	SCV000555323	likely benign	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2025-01-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000728842	SCV000716380	likely benign	not provided	2019-08-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000728842	SCV000856460	uncertain significance	not provided	2017-08-22	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000728842	SCV001747988	likely benign	not provided	2023-11-01	criteria provided, single submitter	clinical testing	TTN: BP4, BP7
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000614907	SCV005039451	likely benign	not specified	2024-03-12	criteria provided, single submitter	clinical testing
Clinical Genetics, Academic Medical Center	RCV000614907	SCV001922513	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000728842	SCV001927579	likely benign	not provided		no assertion criteria provided	clinical testing